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Hurler Syndrome (Mucopolysaccharidosis Type 1): A Case Report.
| Content Provider | Europe PMC |
|---|---|
| Author | Khalid, Noman Abdullah, Muhammad Awais, Abeer bin Hassan, Muhammad Muhammad, Ameer |
| Editor | Muacevic, Alexander Adler, John R |
| Copyright Year | 2023 |
| Abstract | Hurler syndrome is a rare autosomal recessive disorder of deficiency in the metabolism of glycosaminoglycans (GAGs), including heparan sulfate and dermatan sulfate, which consequently accumulate in the different organs of the body, resulting from deficiency of an enzyme named Alpha-L-iduronidase. Here, we present an interesting case of a young female patient who presented with a combination of skeletal, oro-facial, ophthalmologic, neurological, and radiological findings of this disease. A diagnosis of Hurler syndrome (Mucopolysaccharidosis Type I) was made late in the disease due to lack of facilities, and the patient was ultimately managed supportively. |
| Journal | Cureus |
| Volume Number | 15 |
| DOI | 10.7759/cureus.37785 |
| PubMed Central reference number | PMC10195038 |
| Issue Number | 4 |
| PubMed reference number | 37213966 |
| e-ISSN | 21688184 |
| Language | English |
| Publisher | Cureus |
| Publisher Date | 2023-04-18 |
| Publisher Place | Palo Alto (CA) |
| Access Restriction | Open |
| Subject Keyword | hurler syndrome mucopolysaccharidosis type 1 lysosomal storage disorder alpha l iduronidase glycosaminoglycans |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Medicine |
